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rs754529382

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754529382(A;A)
Make rs754529382(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136518172
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs754529382
ebirs754529382
HLIrs754529382
Exacrs754529382
Varsomers754529382
Maprs754529382
PheGenIrs754529382
hapmaprs754529382
1000 genomesrs754529382
hgdprs754529382
ensemblrs754529382
gopubmedrs754529382
geneviewrs754529382
scholarrs754529382
googlers754529382
pharmgkbrs754529382
gwascentralrs754529382
openSNPrs754529382
23andMers754529382
23andMe allrs754529382
SNP Nexus

SNPshotrs754529382
SNPdbers754529382
MSV3drs754529382
GWAS Ctlgrs754529382
Max Magnitude0
ClinVar
Risk rs754529382(A;A)
Alt rs754529382(A;A)
Reference rs754529382(G;G)
Significance Probable-Pathogenic
Disease Adams-Oliver syndrome 5
Variation info
Gene NOTCH1
CLNDBN Adams-Oliver syndrome 5
Reversed 0
HGVS NC_000009.11:g.139412624G>C
CLNSRC
CLNACC RCV000205720.1,